Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA).

“We still don’t have enough treatments, but the path forward seems clearer than it has been for the past 30 years,” Francis Collins, MD, PhD, NIH director, told 900 delegates at the meeting, which was livestreamed.

Clinical Center at the National Institutes of Health in Bethesda, Maryland. (Photos by Larry Luxner)

Collins said researchers and patient advocacy groups are increasingly forming consortia to promote research. Each of the 22 Rare Diseases Clinical Research Networksfunded by NIH brings researchers at sites worldwide — along with patient advocacy groups — together to work on at least three related rare diseases.

For example, the Developmental Synaptopathies Consortium (DSC) studies three distinct rare genetic syndromes that often cause autism and intellectual disabilities, and which are known to impair similar pathways in the brain. Although research on the genetic and biological bases of these diseases was underway long before scientists established the consortium, their collaboration helped develop a biosample repository, as well as standardization of clinical trial protocols.

This paved the way for a study focusing on prevention and a world congress to disseminate information.

The DSC works with six patient advocacy groups, said its principal investigator, Mustafa Sahin, MD, of Boston Children’s Hospital.

“This has been surprising and transformative,” Sahin said at the NIH event. “We learned from each different patient advocacy organization, and we can leverage that with other disorders.”

Considering the patient

By partnering with patient groups, consortia help researchers get the word out about clinical trials through patient education conferences, websites, and social media. In turn, the groups help to shape research at multiple points — from designing trials and recruiting patients to disseminating scientists’ findings and influencing policy.

“It was an incredible feeling to know that every step of the way our voice matters,” she said. “We could really talk with doctors and let them know what it is like living with the disease.”

The ability to read the human genome has allowed researchers to identify the cause of many rare diseases. New technologies to edit genes offer hope in treating the 80 percent of rare diseases and 10 percent of rare cancers that have a genetic component.

For example, sickle cell diseaseresults from a single mutation that causes red blood cells to form an abnormal sickle shape. Some children have been successfully treated with blood stem cells or bone marrow transplants from a matched donor.

Gene therapy may soon let patients become their own donors. Gene-editing technologies such as CRISPR can target a specific stretch of the genetic code to correct mutations in blood stem cells before returning them to the patient. A clinical trial of such a potential editing therapy — CTX001, being developed by CRISPR Therapeutics and Vertex Pharmaceuticals — is now recruiting several dozen patientsat its Tennessee site.

CRISPR is “a hugely powerful tool to start thinking about correcting genetic disease, and I’m excited about the prospects,” said John F. Tisdale, MD, chief of the Cellular and Molecular Therapeutics Laboratory, a unit of the NIH’s National Heart, Lung, and Blood Institute. “But we have a lot to learn.”

Gene therapy faces obstacles

Tisdale said that before gene therapy moves from the lab to the clinic, it must overcome many regulatory hurdles. Other challenges are related to manufacturing the viruses — used as vectors to deliver the gene therapies — and how to make clinical trials and treatment accessible to all patients.

“I would say that as a patient, you are your own best advocate — especially if you have a rare disease. It’s imperative to do your research,” said Tesha Samuels, a sickle cell patient. Her research led her to the NIH website.

After enrolling in a 2014 trial, Samuels periodically reached out to her contact to see if other trials were available. When there was, she decided to move forward.

“In any clinical trial, family support is imperative,” she said, adding that her family developed a schedule in order to take off from work to be there for her.

Disclaimer:

Dravet Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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